B6;129P2-Gjb2tm1Ugds/Cnrm
| Status | Available to order |
| EMMA ID | EM:00245 |
| International strain name | B6;129P2-Gjb2tm1Ugds/Cnrm |
| Alternative name | Cx26 flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gjb2tm1Ugds, |
| Gene/Transgene symbol | Gjb2 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | The whole open reading frame of exon 2 of the Gjb2 (connexin 26) gene is replaced by a construct flanked by three loxP sites and containing the exon 2 of Gjb2 and a neomycin-selection cassette; cre recombinase activity will delete the loxP-flanked exon 2 of Gjb2 and the selection marker gene (neomycin resistance). |
| Phenotypic information | Reduced expression of Gjb2 (connexin 26) protein. |
| Breeding history | After blastocyst injection the chimeras were bred with C57BL/6NCrl to obtain brown coat coloured offspring. This brown offspring was backcrossed to C57BL/6NCrl more than three times. |
| References |
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Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
| Breeding at archiving centre | Backcrossed to C57BL/6J |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Porokeratotic eccrine ostial and dermal duct nevus / Orphanet_166286
- Palmoplantar keratoderma-deafness syndrome / Orphanet_2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome / Orphanet_2698
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Keratoderma hereditarium mutilans / Orphanet_494
- KID syndrome / Orphanet_477
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
Literature references
- Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death.;Cohen-Salmon Martine, Ott Thomas, Michel Vincent, Hardelin Jean Pierre, Perfettini Isabelle, Eybalin Michel, Wu Tao, Marcus Daniel C, Wangemann Philine, Willecke Klaus, Petit Christine, ;2002;Current biology : CB;12;1106-11; 12121617
- Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea.;Sun Yu, Tang Wenxue, Chang Qing, Wang Yunfeng, Kong Weijia, Lin Xi, ;2009;The Journal of comparative neurology;516;569-79; 19673007
- Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.;Mammano Fabio, ;2019;Cold Spring Harbor perspectives in medicine;9;301-317; 30181354
- Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.;Fetoni Anna Rita, Zorzi Veronica, Paciello Fabiola, Ziraldo Gaia, Peres Chiara, Raspa Marcello, Scavizzi Ferdinando, Salvatore Anna Maria, Crispino Giulia, Tognola Gabriella, Gentile Giulia, Spampinato Antonio Gianmaria, Cuccaro Denis, Guarnaccia Maria, Morello Giovanna, Van Camp Guy, Fransen Erik, Brumat Marco, Girotto Giorgia, Paludetti Gaetano, Gasparini Paolo, Cavallaro Sebastiano, Mammano Fabio, ;2018;Redox biology;19;33-7; 30199819
- Targeted connexin26 ablation arrests postnatal development of the organ of Corti.;Wang Yunfeng, Chang Qing, Tang Wenxue, Sun Yu, Zhou Binfei, Li Huawei, Lin Xi, ;2009;Biochemical and biophysical research communications;385;36-41; 19433060
- Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss.;Liang Chun, Zhu Yan, Zong Liang, Lu Guang-Jin, Zhao Hong-Bo, ;2012;Neuroscience letters;528;28-32; 22975134
- Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders.;Chen Jin, Chen Jing, Zhu Yan, Liang Chun, Zhao Hong-Bo, ;2014;Biochemical and biophysical research communications;448;719-729; 24732355
- Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss.;Zhu Y, Chen J, Liang C, Zong L, Chen J, Jones R O, Zhao H-B, ;2015;Neuroscience;284;15647; 25451287
- Connexin26 gap junction mediates miRNA intercellular genetic communication in the cochlea and is required for inner ear development.;Zhu Yan, Zong Liang, Mei Ling, Zhao Hong-Bo, ;2015;Scientific reports;5;10762; 26490746
- Pannexin1 channels dominate ATP release in the cochlea ensuring endocochlear potential and auditory receptor potential generation and hearing.;Chen Jin, Zhu Yan, Liang Chun, Chen Jing, Zhao Hong-Bo, ;2015;Scientific reports;5;195-203; 26035172
- A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.;Mei Ling, Chen Jin, Zong Liang, Zhu Yan, Liang Chun, Jones Raleigh O, Zhao Hong-Bo, ;2017;Neurobiology of disease;108;223-227; 28823936
- Progressive age-dependence and frequency difference in the effect of gap junctions on active cochlear amplification and hearing.;Zong Liang, Chen Jin, Zhu Yan, Zhao Hong-Bo, ;2017;Biochemical and biophysical research communications;489;e0167850; 28552523
- Sound-Induced Intracellular Ca2+ Dynamics in the Adult Hearing Cochlea.;Chan Dylan K, Rouse Stephanie L, ;2016;PloS one;11;1786; 27959894
- Active cochlear amplification is dependent on supporting cell gap junctions.;Zhu Yan, Liang Chun, Chen Jin, Zong Liang, Chen Guang-Di, Zhao Hong-Bo, ;2013;Nature communications;4;; 23653198